Canonical Allele Identifier: CA2796994
Gene: CPLX1 HGNC NCBI
ClinVar RCV:
RCV003061601
ClinVar Variation:
2152203
dbSNP:
373896763
gnomAD v2:
4:786331 T / C
gnomAD v3:
4:792543 T / C
gnomAD v4:
chr4-792543-T-C
Joint Max Group AF 0.00004619 (NFE)
Genomes Max Group AF 0.00004766 (NFE)
Exomes Max Group AF 0.00004353 (NFE)
MyVariant.info:
GRCh38 chr4:g.792543T>C
GRCh37 chr4:g.786331T>C
Revel Score:
ENST00000304062 (MANE Select) 0.163
ENST00000505203 0.163
ENST00000504062 0.163
ENST00000513195 0.163
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.792543T>C , CM000666.2:g.792543T>C GRCh38
NC_000004.11:g.786331T>C , CM000666.1:g.786331T>C GRCh37
NC_000004.10:g.776331T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000304062.11:c.97A>G MANE Select ENSP00000305613.6:p.Lys33Glu
ENST00000304062.10:c.97A>G ENSP00000305613.6:p.Lys33Glu
ENST00000504062.1:c.52A>G ENSP00000421947.1:p.Lys18Glu
ENST00000505203.1:c.97A>G ENSP00000425960.1:p.Lys33Glu
ENST00000506404.1:n.150A>G
NM_006651.3:c.97A>G NP_006642.1:p.Lys33Glu
XM_011513391.1:c.52A>G XP_011511693.1:p.Lys18Glu
XR_925031.1:n.1936-2737T>C
XR_925032.1:n.1922-2737T>C
XR_002959773.1:n.2378-2737T>C
XR_925031.3:n.2296-2737T>C
XR_925032.3:n.2282-2737T>C
NM_006651.4:c.97A>G MANE Select NP_006642.1:p.Lys33Glu
Search 100 bp 5'
Search 100 bp 3'